PEDS Flashcards
1 month old infant with:
nontender epigastric mass,
nonbilious vomiting,
hunger (strong rooting reflex),
and signs of dehydration (sunken fontanelles, lethargy),
is consistent with what diagnosis?
infantile hypertrophic pyloric stenosis (IHPS)
(BREASTFEEDING infant reduces risk of getting this)
Commonly affects boys age 3-12, with a peak incidence between age 5 and 7
Presents with progressive, worsening leg pain and/or a limp.
Decreased hip range of motion ± thigh/gluteal muscle atrophy.
± Trendelenberg sign (limited internal rotation and abduction of the hip)
Early hip X-Ray may be normal
Legg-Calvé-Perthes disease
(idiopathic osteonecrosis of the femoral epiphysis)
x-ray shows a flattened and fragmented femoral head
Managed conservatively with bracing or splinting so non-weightbearing.
Surgery may be indicated in cases in which the femoral head is not well contained within the acetabulum.
an inflammatory hip condition that presents in children age 3-8 with hip pain and limp following a viral infection and last <4 weeks. X-ray may be normal or show a joint effusion
Transient synovitis (of the hip)
Conservative management with rest and analgesics
An infection that typically affects the metaphyses of long bones and presents acutely with fever, pain, and refusal to bear weight.
Osteomyelitis
Commonly affects obese (or tall, skinny), adolescent (age 10-14) boys.
Presents with insidious onset of hip, thigh, or knee pain that leads to limping.
Examination shows limited internal rotation of the hip, and the thigh externally rotates during passive hip flexion.
Risk increases if child has endocrinopathies (like autoimmune disease) and can present at an earlier age (<10) and are more likely to develop bilateral disease.
slipped capital femoral epiphysis (SCFE)
displacement of the proximal femur from the femoral head
Due to weakening of the femoral growth plate (ie, physis)
Complications: Avascular Necrosis of Femoral Head
Tx: Prompt surgical screw fixation to stabilize the physis. Make pt non-weight bearing or full bed-rest if bilateral
Oral ____ is often prescribed for juvenile idiopathic arthritis, which is characterized by chronic joint pain, swelling, and stiffness.
methotrexate
** Antinuclear antibody** testing and slit lamp examination (to screen for uveitis) are part of the management of juvenile idiopathic arthritis
Diagnosis should be considered in a toddler boy (Age 1–3 years) who has proximal muscle weakness, delayed walking, and bilateral calf enlargement (due to muscle replacement with fat –calf pseudohypertrophy), which can cause leg pain.
Other findings including toe walking (due to tight heel cords) and a waddling gait.
Creatine kinase is markedly elevated in labs
Diagnosis is confirmed with genetic testing.
If inconclusive, muscle biopsy is indicated and shows replacement of muscle by fat and fibrotic tissue.
Duchenne muscular dystrophy
wheelchair bound by adolescence. Tx: Glucocorticoids
Other findings including walking hands up the legs to help them stand (Gower sign)
Complications include: dilated cardiomyopathy or conduction abnormalities (get screening Echo & ECG), Scoliosis, Restrictive Lung Disease.
Can be used to treat congenital rickets, which is caused by severe maternal vitamin D deficiency.
Poor bone mineralization causes pathologic bowing of the forearm and tibia
± widened epiphyseal plates on x-ray due to impaired mineralization.
High-dose vitamin D supplementation
Congenital muscular ____ is a postural neck deformity due to tightening of the SCM muscle.
Presents with ipsilateral head tilt and contralateral chin deviation.
A fibrotic neck mass may be present on examination, ± limited range of motion of the neck
torticollis
Tx: includes re-positioning, passive stretching, & physical therapy.
Limited ROM of the neck increases the risk of **positional plagiocephaly **(flattening of the head on that side & anterior displacement of the ear and forehead ipsilateral to the flattening)
Missed or delayed diagnosis can lead to craniofacial asymmetry.
Congenital lymphatic malformations located in the posterior triangle of the neck. They are often detected prenatally and associated with aneuploidy. Exam shows a fluctuant mass that transilluminates.
Cystic hygromas
Down syndrome, Fragile X etc.
Manifestations include:
* Frequent fractures
* Conductive hearing loss/ speech delays
* Short to normal stature
* Discolored/Translucent teeth (exposed dentin)
* Joint hypermobility
± short stature
Osteogenesis Imperfecta
(AD, connective tissue disorder; Type I collagen (COL1A1) gene mutation)
Blue sclera (scleral thinning) is a give away symptom
Dentinogenesis imperfecta (Discolored teeth)
Achondroplasia is caused by a ____ gene mutation that inhibits endochondral bone formation, primarily in long bones. Therefore, patients have disproportionate short extremities relative to the trunk.
Common dysmorphic features include frontal bossing and macrocephaly
fibroblast growth factor receptor 3 (FGFR3)
Ehlers-Danlos syndrome is a connective tissue disorder caused by defective ____.
This defect causes patients to have joint hypermobility (eg, subluxation, dislocation)
type V collagen
What is used to evaluate for Hirschsprung disease, which usually presents in the neonatal period with delayed meconium passage.
can cause chronic, refractory constipation in infancy
Barium enema
BEFORE the enema, get an abdominal x-ray
A remnant duct containing ectopic gastric tissue that secretes hydrochloric acid and leads to intestinal ulceration and painless, bloody stools.
Meckel diverticulum
(remnant of the fetal vitelline duct)
Dx: Pertechtinate scan (aka Meckle’s Scan)
